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Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations
BACKGROUND: Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of FIL is closely associated with PIK3CA mutations. This study aimed to...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10347770/ https://www.ncbi.nlm.nih.gov/pubmed/37452404 http://dx.doi.org/10.1186/s13023-023-02786-3 |